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Article

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.

Ophthalmology - 1 Dec 2012

Avila-Fernandez Almudena, Corton Marta, Nishiguchi Koji M, Muñoz-Sanz Nelida, Benavides-Mori Belen, Blanco-Kelly Fiona, Riveiro-Alvarez Rosa, Garcia-Sandoval Blanca, Rivolta Carlo, Ayuso Carmen

Abstract excerpt

OBJECTIVE: To identify the genetic causes underlying early-onset autosomal recessive retinitis pigmentosa (arRP) in the Spanish population and describe the associated phenotype. DESIGN: Case series. PARTICIPANTS: A total of 244 unrelated families affected by early-onset arRP. METHODS: Homozygosity mapping or exome sequencing analysis was performed in 3 families segregating arRP. A mutational screening was...

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PMID: 22917891
DOI: 10.1016/j.ophtha.2012.06.033

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